Perrault syndrome: Clinical report and retrospective analysis

BACKGROUND: Perrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive disorder and only a few cases have been reported worldwide. We report a Chinese female characterized by sensorineural hearing loss and premature ovarian insufficiency. METHODS: We evaluated audiological, endocrine, an...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Pan, Zhaoyu, Xu, Hongen, Tian, Yongan, Liu, Danhua, Liu, Huanfei, Li, Ruijun, Dou, Qian, Zuo, Bin, Zhai, Rongqun, Tang, Wenxue, Lu, Wei
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2020
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549576/
https://ncbi.nlm.nih.gov/pubmed/32767731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1445
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